Test & specimen information

prepair carrier screening

Overview

prepair carrier screening identifies carrier status for cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). Anyone can be a carrier of a genetic condition, even if there is no family history. Knowing carrier status helps determine if an individual or couple have an increased chance of having a baby with one of these conditions.

CF, FXS and SMA have serious health consequences and are some of the most common recessive conditions found in the general population. Testing will identify individual carrier status for CF, FXS and SMA.

Learn more about carrier screening (for health professionals) >

Turnaround time

prepair 3: 2 weeks

Cost

prepair 3: $389

Cost:approx $1200/couple

prepair 500+ screens for over 500 genes. This screen includes genes for cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA).
View gene list >

Who: both biological parents are screened together (individuals on request)
TAT: 6-8 weeks
Timing: ideally before 8 weeks gestation

prepair 500+ is a package offered by VCGS. Testing is performed by an overseas partner, with additional genetic interpretation, clinical support and genetic counselling provided by VCGS in Melbourne.

Genetic carrier screening is relevant to all individuals and couples, regardless of ethnic background or family history. The latest RANZCOG guidelines state:

Information on carrier screening for other genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy.

Carrier screening is ideally performed pre-conception, although can also take place during early pregnancy (<12 weeks).

Any type of screening for genetic or chromosome conditions during pregnancy is optional. Information should be provided about test options, but the decision to test should be a personal one.

Screening is relevant to everyone planning, or in early pregnancy, regardless of ethnicity or family history.
Individuals can be a carrier for a genetic condition even if no one in their family has that condition.
Most couples find out they have a low chance of having children with an inherited genetic condition. However, even with a low chance result, there remains a very small chance of having children with an inherited condition.
Knowing this information before pregnancy allows for reproductive planning and to consider options like IVF.
Prenatal diagnostic testing is an option for those who are pregnant and found to be at increased chance of having children with a genetic condition.